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Coats disease in a patient with Fanconi anemia: a case report.

作者信息

Martín-Sanz Raquel, Peña David, López-Miguel Alberto, Coco-Martín María B, González-García Hermenegildo, Álvarez-Guisasola Francisco J, Pastor José C

机构信息

IOBA Eye Institute, Universidad de Valladolid, Valladolid - Spain.

出版信息

Eur J Ophthalmol. 2015 Mar-Apr;25(2):182-3. doi: 10.5301/ejo.5000517. Epub 2014 Sep 11.

Abstract

PURPOSE

To describe the diagnosis and management of Coats disease in a patient with Fanconi anemia.

METHODS

Case report.

RESULTS

A 12-year-old girl with Fanconi anemia developed Coats disease. Retinal vasculature anomalies are present in both diseases; however, differential diagnosis in this case could be based on the presence of telangiectasias, which are typical of Coats disease, and the absence of perivascular sheathing, usually described in the uncommon retinal manifestations of Fanconi anemia. The stage 4 Coats disease was managed with intravitreal bevacizumab injections and later pars plana vitrectomy with silicone oil tamponade surgery, which prevented enucleation despite visual loss.

CONCLUSIONS

Patients with Fanconi anemia can have retinal vasculature anomalies that are not necessarily related to this systemic anomaly. In this case, the retinal alterations were related to advanced Coats disease stage, which was successfully treated, and enucleation of the affected eye was not necessary.

摘要

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